Canonical Allele Identifier: CA379807327

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434214A>C (hg19) ; chr11:g.17412667A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412667A>C , CM000673.2:g.17412667A>C	GRCh38
NC_000011.9:g.17434214A>C , CM000673.1:g.17434214A>C	GRCh37
NC_000011.8:g.17390790A>C	NCBI36
NG_008867.1:g.69236T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2224T>G
ENST00000529967.6:n.814T>G
ENST00000642611.2:n.2624T>G
ENST00000682051.1:n.2571T>G
ENST00000682110.1:n.2624T>G
ENST00000682140.1:c.2552T>G	ENSP00000507829.1:p.Leu851Trp
ENST00000682185.1:n.3860T>G
ENST00000682204.1:c.*693T>G	ENSP00000507094.1:n.*693T>G
ENST00000682215.1:n.2621T>G
ENST00000682288.1:c.*986T>G	ENSP00000507506.1:n.*986T>G
ENST00000682442.1:n.2745T>G
ENST00000682528.1:n.2621T>G
ENST00000682673.1:n.2568T>G
ENST00000682805.1:n.2621T>G
ENST00000682965.1:c.2552T>G	ENSP00000508229.1:p.Leu851Trp
ENST00000683093.1:n.2723T>G
ENST00000683136.1:c.2552T>G	ENSP00000507768.1:p.Leu851Trp
ENST00000683153.1:n.2780T>G
ENST00000683365.1:n.2726T>G
ENST00000683377.1:n.2624T>G
ENST00000683456.1:c.2555T>G	ENSP00000508318.1:p.Leu852Trp
ENST00000683522.1:n.2624T>G
ENST00000683562.1:c.*724T>G	ENSP00000508265.1:n.*724T>G
ENST00000683693.1:n.2621T>G
ENST00000683725.1:c.2555T>G	ENSP00000507496.1:p.Leu852Trp
ENST00000684010.1:n.2539T>G
ENST00000684157.1:n.2624T>G
ENST00000684253.1:n.2527T>G
ENST00000684288.1:c.*727T>G	ENSP00000507143.1:n.*727T>G
ENST00000684313.1:n.2056T>G
ENST00000684332.1:n.2697T>G
ENST00000684371.1:n.2730T>G
ENST00000684404.1:n.2621T>G
ENST00000684442.1:n.2624T>G
ENST00000684555.1:c.*767T>G	ENSP00000507705.1:n.*767T>G
ENST00000684571.1:c.2396T>G	ENSP00000506935.1:p.Leu799Trp
ENST00000684593.1:c.*2260T>G	ENSP00000507005.1:n.*2260T>G
ENST00000684711.1:c.*951T>G	ENSP00000506841.1:n.*951T>G
ENST00000302539.9:c.2558T>G	ENSP00000303960.4:p.Leu853Trp
ENST00000389817.8:c.2555T>G MANE Select	ENSP00000374467.4:p.Leu852Trp
ENST00000642271.1:c.2552T>G	ENSP00000493749.1:p.Leu851Trp
ENST00000642579.1:c.639T>G
ENST00000642611.1:n.2509T>G
ENST00000642902.1:c.2390T>G
ENST00000643260.1:c.2555T>G	ENSP00000494450.1:p.Leu852Trp
ENST00000643562.1:c.*531T>G	ENSP00000496124.1:n.*531T>G
ENST00000643925.1:c.599T>G
ENST00000644447.1:c.911T>G	ENSP00000496282.1:p.Leu304Trp
ENST00000644472.1:c.*916T>G	ENSP00000495378.1:n.*916T>G
ENST00000644484.1:c.*764T>G	ENSP00000493558.1:n.*764T>G
ENST00000644542.1:c.*2260T>G	ENSP00000495532.1:n.*2260T>G
ENST00000644675.1:c.*727T>G	ENSP00000494567.1:n.*727T>G
ENST00000644757.1:c.*860T>G	ENSP00000495085.1:n.*860T>G
ENST00000644772.1:c.2621T>G	ENSP00000494321.1:p.Leu874Trp
ENST00000645076.1:c.1807T>G
ENST00000645744.1:c.*919T>G	ENSP00000494564.1:n.*919T>G
ENST00000645760.1:c.2830T>G
ENST00000645884.1:c.2555T>G	ENSP00000495516.1:p.Leu852Trp
ENST00000646003.1:c.*611T>G	ENSP00000495259.1:n.*611T>G
ENST00000646207.1:c.*919T>G	ENSP00000495025.1:n.*919T>G
ENST00000646276.1:c.*828T>G	ENSP00000496070.1:n.*828T>G
ENST00000646592.1:c.1781T>G
ENST00000646902.1:c.2552T>G	ENSP00000494101.1:p.Leu851Trp
ENST00000646993.1:c.*951T>G	ENSP00000493720.1:n.*951T>G
ENST00000647013.1:c.2561T>G	ENSP00000496741.1:n.2561T>G
ENST00000647015.1:c.2306T>G	ENSP00000495389.1:p.Leu769Trp
ENST00000647086.1:c.*2285T>G	ENSP00000493677.1:n.*2285T>G
ENST00000647158.1:c.*696T>G	ENSP00000495744.1:n.*696T>G
ENST00000302539.8:c.2558T>G	ENSP00000303960.4:p.Leu853Trp
ENST00000389817.7:c.2555T>G	ENSP00000374467.3:p.Leu852Trp
ENST00000526921.5:n.239T>G
ENST00000527905.5:c.2525T>G	ENSP00000431653.1:p.Leu842Trp
ENST00000529967.5:n.224T>G
ENST00000530147.5:n.138T>G
ENST00000531911.1:n.669T>G
NM_000352.4:c.2555T>G	NP_000343.2:p.Leu852Trp
NM_001287174.1:c.2558T>G	NP_001274103.1:p.Leu853Trp
XM_011520331.1:c.2555T>G	XP_011518633.1:p.Leu852Trp
XM_011520332.1:c.2558T>G	XP_011518634.1:p.Leu853Trp
XM_011520333.1:c.1055T>G	XP_011518635.1:p.Leu352Trp
XM_011520334.1:c.2558T>G	XP_011518636.1:p.Leu853Trp
XR_930890.1:n.2621T>G
XR_930891.1:n.2621T>G
XR_930892.1:n.2621T>G
XR_930893.1:n.2618T>G
NM_001351295.1:c.2621T>G	NP_001338224.1:p.Leu874Trp
NM_001351296.1:c.2555T>G	NP_001338225.1:p.Leu852Trp
NM_001351297.1:c.2552T>G	NP_001338226.1:p.Leu851Trp
NR_147094.1:n.2624T>G
XM_017018197.2:c.2624T>G	XP_016873686.1:p.Leu875Trp
XM_017018199.1:c.2621T>G	XP_016873688.1:p.Leu874Trp
XM_017018201.2:c.2624T>G	XP_016873690.1:p.Leu875Trp
XM_017018202.1:c.1121T>G	XP_016873691.1:p.Leu374Trp
XM_017018204.1:c.512T>G	XP_016873693.1:p.Leu171Trp
XM_024448668.1:c.923T>G	XP_024304436.1:p.Leu308Trp
XR_001747945.2:n.2696T>G
XR_001747946.2:n.2627T>G
XR_002957189.1:n.2696T>G
NM_000352.6:c.2555T>G MANE Select	NP_000343.2:p.Leu852Trp
NM_001287174.2:c.2558T>G	NP_001274103.1:p.Leu853Trp
NM_001351295.2:c.2621T>G	NP_001338224.1:p.Leu874Trp
NM_001351296.2:c.2555T>G	NP_001338225.1:p.Leu852Trp
NM_001351297.2:c.2552T>G	NP_001338226.1:p.Leu851Trp
NR_147094.2:n.2624T>G
NM_001287174.3:c.2558T>G	NP_001274103.1:p.Leu853Trp